Noncompaction cardiomyopathy is caused by a novel in‐frame desmin (DES) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defect

@article{Marakhonov2019NoncompactionCI,
  title={Noncompaction cardiomyopathy is caused by a novel in‐frame desmin (DES) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defect},
  author={Andrey V. Marakhonov and Andreas Brodehl and Roman Myasnikov and Peter Sparber and Anna V Kiseleva and Olga Kulikova and Alexey N Meshkov and Anastasia Zharikova and S. N. Koretsky and Maria S Kharlap and Caroline Stanasiuk and Elena A. Mershina and Valentin E Sinitsyn and A O Shevchenko and Natalia Mozheyko and O. M. Drapkina and Sergey A. Boytsov and Hendrik Milting and Mikhail Yu Skoblov},
  journal={Human Mutation},
  year={2019},
  volume={40},
  pages={734 - 741}
}
Mutations in DES, encoding desmin protein, are associated with different kinds of skeletal and/or cardiac myopathies. However, it is unknown, whether DES mutations are associated with left ventricular hypertrabeculation (LVHT). Here, we performed a clinical examination and subsequent genetic analysis in a family, with two individuals presenting LVHT with conduction disease and skeletal myopathy. The genetic analysis revealed a novel small in‐frame deletion within the DES gene, p.Q113_L115del… Expand
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TLDR
A small Iranian family, where the index patient received a diagnosis of restrictive cardiomyopathy (RCM) in combination with atrioventricular (AV) block, is presented, where a novel homozygous missense mutation in the DES gene (c.364T > C; p.Y122H) is revealed, which is absent in human population databases. Expand
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
PDE4DIP is identified as a novel gene for slow AF and its epistatic interaction with DES mutations in development of conduction disease and arrhythmia is unraveled. Expand
Genetic Animal Models for Arrhythmogenic Cardiomyopathy
TLDR
An overview about the existing animal models of arrhythmogenic cardiomyopathy is presented with a focus on the underlying pathomechanism and its importance for understanding of this disease. Expand
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